Convergent somatic evolution commences in utero in a germline ribosomopathy

Abstract Clonal tracking of cells using somatic mutations permits exploration of clonal dynamics in human disease. Here, we perform whole genome sequencing of 323 haematopoietic colonies from 10 individuals with the inherited ribosomopathy Shwachman-Diamond syndrome to reconstruct haematopoietic phy...

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Bibliographic Details
Main Authors: Heather E. Machado, Nina F. Øbro, Nicholas Williams, Shengjiang Tan, Ahmed Z. Boukerrou, Megan Davies, Miriam Belmonte, Emily Mitchell, E. Joanna Baxter, Nicole Mende, Anna Clay, Philip Ancliff, Jutta Köglmeier, Sally B. Killick, Austin Kulasekararaj, Stefan Meyer, Elisa Laurenti, Peter J. Campbell, David G. Kent, Jyoti Nangalia, Alan J. Warren
Format: Article
Language:English
Published: Nature Portfolio 2023-08-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-40896-5